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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: C224Y
cDNA Position: 671 g→a (exon 3)
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Disease | Genetics | Frequency | Reference |
Alpers | Sarzi et al. 2007 reported 2% (n=50) of patients with multiple respiratory chain deficiency with a 35% decrease of mtDNA | (Sarzi et al. 2007) PubMed |